人类植入前胚胎中的核染色体定位：与非整倍体及胚胎形态的相关性

Nuclear chromosomal localization in human preimplantation embryos: correlation with aneuploidy and embryo morphology.

作者信息

McKenzie Laurie J, Carson Sandra A, Marcelli Susan, Rooney Erin, Cisneros Pauline, Torskey Sergy, Buster John, Simpson Joe Leigh, Bischoff Farideh Z

机构信息

Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA.

出版信息

Hum Reprod. 2004 Oct;19(10):2231-7. doi: 10.1093/humrep/deh391. Epub 2004 Aug 6.

DOI:10.1093/humrep/deh391

PMID:15298970

Abstract

BACKGROUND

Spatial organization of chromosomes is hypothesized to reflect transcriptional activity and regulatory protein function. Preimplantation genetic diagnosis allows assessment of the spatial relationship of chromosomes in human blastomeres. We thus examined the localization of chromosomes 13, 16, 18, 21, 22, X and Y in blastomeres from 6-8-cell stage embryos, correlating localization to aneuploidy and embryo morphology.

METHODS

Following fluorescence in situ hybridization to enumerate chromosomes 13, 16, 18, 21, 22, X and Y, signal positions were localized within one of four concentric shells. Statistical analysis compared chromosome localization between euploid and aneuploid blastomeres as well as morphologically normal and abnormal embryos.

RESULTS

Of 98 embryos, 109 blastomeres were evaluated. Within chromosomally normal blastomeres, no difference in the location of all seven chromosomes (P</=0.10) was observed. However, a significant difference was observed between the organization of chromosomes in euploid versus aneuploid blastomeres (P</=0.001). Localization of chromosomes 13, 18, 21 and 22 was significantly different when an abnormality involving that chromosome existed (P</=0.001, P</=0.01, P</=0.025 and P</=0.01 respectively).

CONCLUSIONS

We report for the first time that localization of chromosomes is altered in chromosomally aneuploid but not in chromosomally normal nor morphologically abnormal euploid blastomeres.

摘要

背景

染色体的空间组织被认为反映了转录活性和调节蛋白功能。植入前遗传学诊断能够评估人类卵裂球中染色体的空间关系。因此，我们研究了6-8细胞期胚胎卵裂球中13、16、18、21、22、X和Y染色体的定位情况，并将其定位与非整倍体和胚胎形态相关联。

方法

通过荧光原位杂交技术对13、16、18、21、22、X和Y染色体进行计数后，将信号位置定位在四个同心壳之一内。统计分析比较了整倍体和非整倍体卵裂球之间以及形态正常和异常胚胎之间的染色体定位情况。

结果

共评估了98个胚胎中的109个卵裂球。在染色体正常的卵裂球中，未观察到所有七条染色体的位置有差异（P≤0.10）。然而，在整倍体和非整倍体卵裂球的染色体组织之间观察到了显著差异（P≤0.001）。当存在涉及某条染色体的异常时，13、18、21和22号染色体的定位有显著差异（分别为P≤0.001、P≤0.01、P≤0.025和P≤0.01）。